Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNMBP_chr10_99870577_100014947	99892056	T T	TCCCTGCC others(42): Show TCCCTGCCCGGCCAGCGGCCCCGTCCGGGAGGAAGGTGGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG02809.hp2 HG02970.hp1	a0001 a0009 a0001 a0009	a0001c0011 a0009c0021 a0001c0011 a0009c0021	a0001c0011t0006 a0009c0021t0006 a0001c0011t0006 a0009c0021t0006	a0001c0011t0006g0088 a0009c0021t0006g0087 a0001c0011t0006g0088 a0009c0021t0006g0087	2	265	0.0075	49	c.315 others(68): Show c.3156+2889_3156+2890insGGCTGACCCCCCCACCTTCCTCCCGG ACGGGGCCGCTGGCCGGGCAGGG	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99892060	C C	CGCCCGGC others(42): Show CGCCCGGCCAGCGGCCCCGTCCGGGAGGAAGGTGGGGGGGTCAGCCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00733.hp2 others(30): Show HG00423.hp1 HG00621.hp2 HG00733.hp2 HG01106.hp2 HG01255.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG02004.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp2 NA18984.hp1 NA18993.hp2 NA19030.hp2 NA19043.hp2 NA19066.hp2 NA19084.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0006 a0001c0011 a0001c0018 others(4): Show a0001c0006 a0001c0011 a0001c0018 a0003c0005 a0003c0020 a0004c0014 a0013c0025	a0001c0006t0004 a0001c0006t0010 a0001c0011t0004 others(7): Show a0001c0006t0004 a0001c0006t0010 a0001c0011t0004 a0001c0011t0010 a0001c0018t0004 a0003c0005t0004 a0003c0005t0011 a0003c0020t0004 a0004c0014t0006 a0013c0025t0009	a0001c0006t0004g0123 a0001c0006t0004g0169 a0001c0006t0004g0186 others(30): Show a0001c0006t0004g0123 a0001c0006t0004g0169 a0001c0006t0004g0186 a0001c0006t0004g0242 a0001c0006t0004g0243 a0001c0006t0004g0252 a0001c0006t0004g0253 a0001c0006t0010g0120 a0001c0011t0004g0012 a0001c0011t0010g0153 a0001c0018t0004g0249 a0003c0005t0004g0026 a0003c0005t0004g0124 a0003c0005t0004g0125 a0003c0005t0004g0127 a0003c0005t0004g0128 a0003c0005t0004g0131 a0003c0005t0004g0132 a0003c0005t0004g0133 a0003c0005t0004g0134 a0003c0005t0004g0135 a0003c0005t0004g0136 a0003c0005t0004g0137 a0003c0005t0004g0139 a0003c0005t0004g0141 a0003c0005t0004g0142 a0003c0005t0011g0138 a0003c0020t0004g0126 a0003c0020t0004g0130 a0004c0014t0006g0117 a0004c0014t0006g0118 a0004c0014t0006g0119 a0013c0025t0009g0171	33	255	0.1294	49	c.315 others(68): Show c.3156+2885_3156+2886insAGGGGGCTGACCCCCCCACCTTCCTC CCGGACGGGGCCGCTGGCCGGGC	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DNMT3A_chr2_25222874_25346925	25300659	A A	ATATATAT others(42): Show ATATATATACATATATATATATACATATATATATATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0083 a0001c0001t0089g0083	1	288	0.0035	49	c.73- others(62): Show c.73-417_73-416insATGTATATATATGTATATATATATATGTATAT ATATATATGTATATATA	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	2/22			chr2	TogoVar
DNTT_chr10_96299434_96343564	96326186	A A	AGTGAGTT others(42): Show AGTGAGTTGTACTTTGAATATTAGTCATGATGACAGTTTCTGTATTACAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	328	0.0030	49	c.875 others(66): Show c.875-1281_875-1233dupGTGAGTTGTACTTTGAATATTAGTCATG ATGACAGTTTCTGTATTACAG	DNTT	ENSG00000107447.8	transcript	ENST00000371174.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347840	T T	TCCCCTCC others(42): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0108 a0003c0003t0004g0108	1	120	0.0083	49	c.322 others(68): Show c.3224+4094_3224+4095insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51			chr10	TogoVar
DOK7_chr4_3458306_3499482	3490408	C C	CTCCTGCT others(42): Show CTCCTGCTCATTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0237 a0004c0004t0006g0237	1	402	0.0025	49	c.772 others(64): Show c.772+612_772+613insTCCTGCTCATTCATTCCTTTCTTCTCCCTC TGCTCATTCATTCCTTCCT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6			chr4	TogoVar
DPEP1_chr16_89608642_89643433	89634976	T T	TCCCTTCC others(42): Show TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	244	0.0041	49	c.105 others(64): Show c.105-897_105-896insCTTCCTTCCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635223	T T	TTCCTTCT others(42): Show TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	243	0.0041	49	c.105 others(64): Show c.105-677_105-676insCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTCCTTCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DTD1_chr20_18583054_18771644	18708224	T T	TATATTAT others(42): Show TATATTATATATATTATATATATATTATATATATATTAAATATATATTAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(64): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02559.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03669.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18990.hp2 NA18994.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19086.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0031	a0001c0001t0002g0002 a0001c0001t0002g0045 a0001c0001t0002g0046 others(62): Show a0001c0001t0002g0002 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0009g0001 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0062 a0001c0001t0015g0044 a0001c0001t0015g0057 a0001c0001t0015g0125 a0001c0001t0021g0059 a0001c0001t0021g0077 a0001c0001t0031g0095	67	371	0.1806	49	c.478 others(68): Show c.478-35872_478-35871insTATATATATTATATATATATTATATA TATATTAAATATATATTACATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNB_chr2_25372243_25678577	25634220	T T	TGTCCGGG others(42): Show TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	159	0.0063	49	c.148 others(66): Show c.148+4745_148+4793dupGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20			chr2	TogoVar
DVL1_chr1_1330278_1354418	1351046	A A	AGGAGCGA others(42): Show AGGAGCGACGGGGATGAGAGGGTGAGGAGGGGCCTGGAGGGCCGGCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	341	0.0029	49	c.-19 others(60): Show c.-1982_-1981insCCCAGCCGGCCCTCCAGGCCCCTCCTCACCCTCT CATCCCCGTCGCTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1629		chr1	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	49	c.75 others(58): Show c.757_*758insAAAAATATATATATATATATATATATATATATATAT ATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(42): Show GTTTTTGTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0040 a0001c0001t0107g0040	1	123	0.0081	49	c.301 others(66): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
EBF3_chr10_129830233_129969274	129920028	C C	CAGTATCT others(42): Show CAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp2 HG02886.hp1 others(4): Show HG00673.hp1 HG01071.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03710.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0022 a0001c0001t0056 a0001c0002t0004	a0001c0001t0001g0208 a0001c0001t0003g0011 a0001c0001t0015g0054 others(4): Show a0001c0001t0001g0208 a0001c0001t0003g0011 a0001c0001t0015g0054 a0001c0001t0022g0174 a0001c0001t0022g0175 a0001c0001t0056g0334 a0001c0002t0004g0302	7	330	0.0212	49	c.554 others(68): Show c.554+37181_554+37229dupCGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920273	G G	GAGTATCT others(42): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG04204.hp2 NA19240.hp2 HG02615.hp2 HG04204.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0001t0001 a0001c0001t0007 a0001c0001t0019	a0001c0001t0001g0159 a0001c0001t0007g0272 a0001c0001t0019g0111 a0001c0001t0001g0159 a0001c0001t0007g0272 a0001c0001t0019g0111	3	309	0.0097	49	c.554 others(68): Show c.554+36936_554+36984dupGGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920322	C C	CAGTATCT others(42): Show CAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03491.hp2 HG02523.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0158 a0001c0001t0034g0178 a0001c0001t0004g0158 a0001c0001t0034g0178	2	334	0.0060	49	c.554 others(68): Show c.554+36935_554+36936insCGCCCTAGACTGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EDA_chrX_69611113_70044472	69835042	C C	CCCACTCT others(42): Show CCCACTCTCTTCTGATTTGTAGGGTTTCTGCCGAGAGATCAGCTGTTAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01109.hp1 others(35): Show HG00140.hp1 HG00639.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02004.hp2 HG02056.hp1 HG02148.hp1 HG02258.hp1 HG02615.hp1 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp2 NA18959.hp1 NA19240.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0004t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0049 a0001c0001t0002g0154 a0001c0001t0002g0181 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0004g0179 a0001c0001t0004g0182 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0007g0036 a0001c0001t0009g0006 a0001c0001t0014g0027 a0001c0001t0016g0003 a0001c0001t0020g0163 a0001c0004t0001g0005 a0003c0005t0001g0018	38	226	0.1681	49	c.397 others(70): Show c.397-121938_397-121937insATCCACTCTCTTCTGATTTGTAGG GTTTCTGCCGAGAGATCAGCTGTTA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDNRA_chr4_147476097_147549954	147546151	G G	GCCCTCCT others(42): Show GCCCTCCTTTCTCTTCTCAATTCGTTCTTCTCTACCTTCTTCTTTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0013 a0001c0001t0027g0013	1	278	0.0036	49	c.35 others(60): Show c.3533_*3534insCCCTCCTTTCTCTTCTCAATTCGTTCTTCTCTAC CTTCTTCTTTCTCTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding		1198		chr4	TogoVar
EEFSEC_chr3_128148481_128413646	128150870	A A	ATATATTC others(42): Show ATATATTCTATATATAATATAATATTCTATATTATATATATAATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	241	0.0041	49	c.-26 others(60): Show c.-2638_-2637insTATATTCTATATATAATATAATATTCTATATTAT ATATATAATATATTC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2610		chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47397937	A A	AGGCCAGC others(42): Show AGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0346 a0016c0020t0001g0346	1	354	0.0028	49	c.194 others(68): Show c.1945+1967_1945+1968insTGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47397945	C C	CGCCCCGT others(42): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(82): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00738.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02559.hp2 HG02735.hp2 HG03130.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA21309.hp1	a0003 a0004 a0006 others(4): Show a0003 a0004 a0006 a0007 a0009 a0013 a0015	a0003c0004 a0003c0008 a0003c0016 others(6): Show a0003c0004 a0003c0008 a0003c0016 a0004c0003 a0006c0007 a0007c0009 a0009c0012 a0013c0017 a0015c0021	a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 others(8): Show a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 a0004c0003t0001 a0006c0007t0001 a0006c0007t0010 a0007c0009t0001 a0007c0009t0002 a0009c0012t0002 a0013c0017t0001 a0015c0021t0006	a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0216 others(78): Show a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0216 a0003c0004t0002g0219 a0003c0004t0002g0220 a0003c0004t0002g0222 a0003c0004t0002g0224 a0003c0004t0002g0226 a0003c0004t0002g0227 a0003c0004t0002g0228 a0003c0004t0002g0230 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0233 a0003c0004t0002g0236 a0003c0004t0002g0237 a0003c0004t0002g0238 a0003c0004t0002g0239 a0003c0004t0002g0240 a0003c0004t0002g0243 a0003c0004t0002g0244 a0003c0004t0002g0245 a0003c0004t0002g0246 a0003c0004t0002g0249 a0003c0004t0002g0250 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0008t0003g0276 a0003c0016t0002g0223 a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0020 a0004c0003t0001g0021 a0004c0003t0001g0022 a0004c0003t0001g0023 a0004c0003t0001g0024 a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0029 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0035 a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0038 a0004c0003t0001g0039 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0042 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0046 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0065 a0004c0003t0001g0066 a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0062 a0006c0007t0001g0063 a0006c0007t0001g0064 a0006c0007t0001g0339 a0006c0007t0001g0340 a0006c0007t0001g0341 a0006c0007t0010g0061 a0007c0009t0001g0221 a0007c0009t0002g0218 a0007c0009t0002g0235 a0007c0009t0002g0247 a0007c0009t0002g0248 a0007c0009t0002g0252 a0009c0012t0002g0004 a0009c0012t0002g0215 a0009c0012t0002g0241 a0013c0017t0001g0209 a0015c0021t0006g0261	85	351	0.2422	49	c.194 others(68): Show c.1945+2016_1945+2017insTGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47397946	G G	GCCCCGTC others(42): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp2 HG03486.hp1 others(1): Show HG02647.hp2 HG02976.hp2 HG03486.hp1 NA18906.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054 others(1): Show a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054 a0008c0011t0001g0273	4	354	0.0113	49	c.194 others(68): Show c.1945+2016_1945+2017insTTCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244980218	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0288 a0001c0001t0008g0288	1	188	0.0053	49	c.25+ others(64): Show c.25+9793_25+9794insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFNA5_chr5_107371894_107675937	107476056	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0140 a0001c0001t0052g0140	1	182	0.0055	49	c.126 others(68): Show c.126-48548_126-48547insAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EHMT1_chr9_137614005_137841127	137721224	A A	ACCCCTCC others(42): Show ACCCCTCCCAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0147 a0001c0006t0001g0147	1	167	0.0060	49	c.642 others(66): Show c.642+4065_642+4066insACCCCTCCCAGACTTCTCACACTCGCCC CCTCCCAGACTTCTCACACTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	308	0.0032	49	c.40 others(58): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4G3_chr1_20801479_21181897	20816066	C C	CGCCTGGC others(42): Show CGCCTGGCCAGCCACCCCATCCGGGAGGGAGGTGGGGAGGTCAGCCCCCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG04184.hp2 HG01516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0271 a0001c0001t0003g0272	2	309	0.0065	49	c.451 others(68): Show c.4515+1325_4515+1326insAGGGGGCTGACCTCCCCACCTCCCTC CCGGATGGGGTGGCTGGCCAGGC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3247003	A A	AGGGAGAG others(42): Show AGGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03704.hp1 NA19043.hp1 HG00735.hp1 HG03704.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0224 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0224	3	176	0.0170	49	c.416 others(68): Show c.416+10295_416+10296insCTCCCTCGCTCTCTCCCTCCCTCGCT CTCTCCCTCCCTCGCTCTCTCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3361733	C C	CTCTGACC others(42): Show CTCTGACCCTGCCCAAGCCCTTGGACTCCCTCACACGGGCACCTCCACCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0010 a0001c0005t0001g0104 a0001c0001t0002g0010 a0001c0005t0001g0104	2	248	0.0081	49	c.43- others(64): Show c.43-7149_43-7101dupTGGTGGAGGTGCCCGTGTGAGGGAGTCCAA GGGCTTGGGCAGGGTCAGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0072 a0002c0002t0005g0072	1	221	0.0045	49	c.-46 others(60): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	39	0.0256	49	c.230 others(66): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(42): Show TAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0011 a0001c0001t0015g0011	1	6	0.1667	49	c.253 others(66): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCA others(42): Show TCCAGTCACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	69	0.0145	49	c.238 others(68): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(42): Show TCCAGTCTCACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0282 a0001c0001t0006g0282	1	69	0.0145	49	c.238 others(68): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(42): Show GGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	72	0.0139	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACCCCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(42): Show GGGGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	72	0.0139	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(42): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0207 a0001c0001t0004g0207	1	72	0.0139	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGC others(42): Show GGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0026 a0001c0002t0006g0026	1	72	0.0139	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCGCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGTGTGT others(42): Show CGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	8	0.1250	49	c.-47 others(60): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACACACACACACC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0320 a0001c0001t0057g0320	1	55	0.0182	49	c.90- others(66): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP1_chr9_108862517_108939124	108900809	A A	ACACACAC others(42): Show ACACACACATACACGCCACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04228.hp1 NA20805.hp2 HG02698.hp2 HG04228.hp1 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0034 a0002c0003 a0002c0034	a0002c0003t0001 a0002c0034t0001 a0002c0003t0001 a0002c0034t0001	a0002c0003t0001g0033 a0002c0003t0001g0047 a0002c0034t0001g0107 a0002c0003t0001g0033 a0002c0003t0001g0047 a0002c0034t0001g0107	3	413	0.0073	49	c.201 others(66): Show c.2015-483_2015-435dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900826	A A	ACACACAC others(42): Show ACACACACATACACGCCACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0119 a0002c0003t0013g0119	1	394	0.0025	49	c.201 others(66): Show c.2015-500_2015-452dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EMILIN2_chr18_2842006_2921003	2867980	C C	CTGACCCC others(42): Show CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGAGGGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0223 a0002c0009t0004g0223	1	450	0.0022	49	c.258 others(68): Show c.258-16955_258-16954insCGGCTGGCTGGGCGGAGGGTTGACCC CCCCACCTCCCTCCCGGACGGGG	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML5_chr14_88607431_88797953	88608064	A A	AGAGTCAT others(42): Show AGAGTCATCCCCATGCAGACCATCGTCTCACTTGATGCTGCTACCGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0026 a0002c0002t0003g0026	1	330	0.0030	49	c.77 others(60): Show c.7753_*7754insGCAGCGGTAGCAGCATCAAGTGAGACGATGGTCT GCATGGGGATGACTC	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4366		chr14	TogoVar
ENTR1_chr9_136396922_136415614	136403374	G G	GGAGAAAG others(42): Show GGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0001 a0007c0029t0001	a0007c0029t0001g0150 a0007c0029t0001g0150	1	408	0.0025	49	c.120 others(66): Show c.1209-488_1209-487insTCCCCCGGCAAACCCCACCCCTTGCTCC CTGGGACCCTGTCCCTTTCTC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403416	C C	CGGGGGGA others(42): Show CGGGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0167 a0002c0003t0002g0167	1	357	0.0028	49	c.120 others(66): Show c.1209-530_1209-529insCGGCAAACCCCACCCCTTGCTCCCAGGA ACCCTGTCCCTTTCTCCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(42): Show CACACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18950.hp1 HG02004.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0251 a0001c0003t0002g0218 a0001c0001t0002g0251 a0001c0003t0002g0218	2	275	0.0073	49	c.-8+ others(66): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	199	0.0050	49	c.910 others(68): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
ERBB4_chr2_211370717_212543802	212373950	T T	TATCCATA others(42): Show TATCCATATATATCCATAAATATATCCATATATATATCCATATATATCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 NA18522.hp1 others(2): Show HG02145.hp2 HG02922.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0027g0055 others(2): Show a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0029g0054	5	29	0.1724	49	c.82+ others(68): Show c.82+164498_82+164499insTGGATATATATGGATATATATATGGA TATATTTATGGATATATATGGAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC2_chr3_55503311_56473467	55583478	C C	CCCTCCTT others(42): Show CCCTCCTTCCTTCTCTCCCCTCCCCTCCCTCCCTCTCTCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp1 HG01109.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0056 a0001c0001t0002g0057	2	69	0.0290	49	c.40 others(68): Show c.40-72203_*40-72202insAGGGAGGGAAGGAGAGAGGGAGGGAG GGGAGGGGAGAGAAGGAAGGAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar

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